| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31536298G>T | CA042740 | DSG2 | c.1520G>T (p.Cys507Phe) c.986G>T (p.Cys329Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31536298G>C | CA402141601 | DSG2 | c.1520G>C (p.Cys507Ser) c.986G>C (p.Cys329Ser) | ClinVar dbSNP |
| 18 | g.31536298G>A | CA021434 | DSG2 | c.1520G>A (p.Cys507Tyr) c.986G>A (p.Cys329Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |